Canonical Allele Identifier: CA3672883

Gene: BTN3A1 BTN3A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26407917T>A , CM000668.2:g.26407917T>A	GRCh38
NC_000006.11:g.26408145T>A , CM000668.1:g.26408145T>A	GRCh37
NC_000006.10:g.26516124T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289361.11:c.680T>A (BTN3A1) MANE Select	ENSP00000289361.6:p.Leu227His
ENST00000082468.11:n.977T>A (BTN3A1)
ENST00000289361.10:c.680T>A (BTN3A1)	ENSP00000289361.6:p.Leu227His
ENST00000414912.2:c.524T>A (BTN3A1)	ENSP00000406667.2:p.Leu175His
ENST00000425234.6:c.680T>A (BTN3A1)	ENSP00000396684.2:p.Leu227His
ENST00000476549.6:c.680T>A (BTN3A1)	ENSP00000420010.2:p.Leu227His
NM_001145008.1:c.524T>A (BTN3A1)	NP_001138480.1:p.Leu175His
NM_001145009.1:c.680T>A (BTN3A1)	NP_001138481.1:p.Leu227His
NM_007048.5:c.680T>A (BTN3A1)	NP_008979.3:p.Leu227His
NM_194441.2:c.680T>A (BTN3A1)	NP_919423.1:p.Leu227His
XM_005248833.1:c.680T>A (BTN3A1)	XP_005248890.1:p.Leu227His
XM_005248834.2:c.680T>A (BTN3A1)	XP_005248891.1:p.Leu227His
XM_006714983.1:c.434-1616T>A (BTN3A1)	XP_006715046.1:n.434-1616T>A
XM_011514268.1:c.*34+33119T>A (BTN3A2)	XP_011512570.1:n.*34+33119T>A
XM_011514272.1:c.680T>A (BTN3A1)	XP_011512574.1:p.Leu227His
XR_926039.1:n.1016T>A (BTN3A1)
XM_005248833.2:c.680T>A (BTN3A1)	XP_005248890.1:p.Leu227His
XM_005248834.4:c.680T>A (BTN3A1)	XP_005248891.1:p.Leu227His
XM_006714983.3:c.434-1616T>A (BTN3A1)	XP_006715046.1:n.434-1616T>A
XR_001743130.1:n.1016T>A (BTN3A1)
XR_001743132.1:n.1016T>A (BTN3A1)
XR_926039.3:n.1016T>A (BTN3A1)
NM_007048.6:c.680T>A (BTN3A1) MANE Select	NP_008979.3:p.Leu227His
NM_001145008.2:c.524T>A (BTN3A1)	NP_001138480.1:p.Leu175His
NM_001145009.2:c.680T>A (BTN3A1)	NP_001138481.1:p.Leu227His
NM_194441.3:c.680T>A (BTN3A1)	NP_919423.1:p.Leu227His